This gene encodes a member of the fibulin family of extracellular matrix glycoproteins. Like all members of this family, the encoded protein contains tandemly repeated epidermal growth factor-like repeats followed by a C-terminus fibulin-type domain. This gene is upregulated in malignant gliomas and may play a role in the aggressive nature of these tumors. Mutations in this gene are associated with Doyne honeycomb retinal dystrophy. Alternatively spliced transcript variants that encode the same protein have been described.[provided by RefSeq, Nov 2009]
| SKU | Test Kits | Buffer | Dye Color | Order Now |
|---|---|---|---|---|
| EFEMP1-20-RE | 20 (40 μL) | 200 μL |  |
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| EFEMP1-20-OR | 20 (40 μL) | 200 μL |  |
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| EFEMP1-20-GO | 20 (40 μL) | 200 μL |  |
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| EFEMP1-20-GR | 20 (40 μL) | 200 μL |  |
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| EFEMP1-20-AQ | 20 (40 μL) | 200 μL |  |
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This gene encodes a member of the fibulin family of extracellular matrix glycoproteins. Like all members of this family, the encoded protein contains tandemly repeated epidermal growth factor-like repeats followed by a C-terminus fibulin-type domain. This gene is upregulated in malignant gliomas and may play a role in the aggressive nature of these tumors. Mutations in this gene are associated with Doyne honeycomb retinal dystrophy. Alternatively spliced transcript variants that encode the same protein have been described.[provided by RefSeq, Nov 2009]
Gene Symbol : EFEMP1
Gene Name : EGF containing fibulin extracellular matrix protein 1
Chromosome : CHR 2: 559,241,62-558,659,61
Locus : 2p16.1
Alt. Genes : KIF20A
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